Institute of Neuroscience

Staff Profile

Professor Bobby McFarland

Professor of Paediatric Mitochondrial Medicine and Hon Consultant Paediatric Neurologist

Background

Prof McFarland trained in paediatrics and paediatric neurology in London and Newcastle upon Tyne. He began his research career studying the molecular consequences and clinical problems associated with mutations of mitochondrial DNA. Since then his research has included the identification of mitochondrial and nuclear gene defects causing disease in children, factors determining the pathogenicity of mitochondrial DNA mutations and numerous clinical research projects. The latter has specifically involved the development of clinical assessment tools (NMDAS and NPMDS), drug trials and more recently, bringing together a living cohort of ~1500 individuals with confirmed mitochondrial disease.

 

Prof McFarland is leading a study on the outcome of Mitochondrial Donation following the recent parliamentary changes to the law that have permitted this procedure in the UK. Together with Dr Jane Stewart they run the Mitochondrial Assisted Reproductive Technologies (Mito-ART) Clinic at the Newcastle Fertility Centre. Prof McFarland has published over 120 peer reviewed papers in high impact journals. He is currently Professor of Paediatric Mitochondrial Medicine at the Wellcome Centre for Mitochondrial Research Newcastle University and Consultant Paediatric Neurologist at the Great North Children’s Hospital.

Research

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Mitochondrial disease affects approximately 1 in 7500 children and adults in the UK causing a broad spectrum of disease from fatal multisystem conditions through isolated cardiomyopathy to indolent eye movement disorders. I work as a paediatric neurologist and lead the Children’s Mitochondrial Disease Service in NUTH Hospitals Trust, one of only 3 nationally designated centres for the investigation and management of mitochondrial disease. Together with colleagues at Newcastle Fertility Centre I have also developed a Pre-implantation Genetic Diagnosis service for women carrying mitochondrial DNA mutations. My research, at the Wellcome Trust Centre for Mitochondrial Research, is closely aligned with the clinical service, encompassing both clinical and laboratory science. I am the chief investigator on the MRC Mitochondrial Disease Patient Cohort Study (UK); a natural history study of mitochondrial disease which has now recruited in excess of 1100 patients throughout the UK. I am also very interested in the molecular mechanisms of mitochondrial disease (with a view to identifying particular targets for therapy) and receive funding from two patient charities, The Lily Foundation and The Ryan Stanford Appeal, to undertake research in childhood onset mitochondrial diseases. I am currently supervising 4 PhD students (2 MRC funded) and collaborate with colleagues in the UK, Netherlands, Germany and the USA on a variety of research projects. I sit on the Scientific Advisory Board of the largest international mitochondrial disease charity, The United Mitochondrial Disease Foundation and represent the British Paediatric Neurology Association on the Multisystem Disease Clinical Reference Group.

Publications